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学科主题: 临床医学
题名:
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses
作者: Yan, Liying1; Huang, Lei2; Xu, Liya2; Huang, Jin1,3,4; Ma, Fei2; Zhu, Xiaohui1,3,4; Tang, Yaqiong2; Liu, Mingshan2; Lian, Ying1; Liu, Ping1; Li, Rong1,3,4; Lu, Sijia5; Tang, Fuchou2,6,7; Qiao, Jie1,3,4,7; Xie, X. Sunney2,8
关键词: monogenic diseases ; chromosome abnormality ; IVF ; PGD ; MALBAC
刊名: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
发表日期: 2015-12-29
DOI: 10.1073/pnas.1523297113
卷: 112, 期:52, 页:15964-15969
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: PREIMPLANTATION GENETIC DIAGNOSIS ; GENOME AMPLIFICATION ; HUMAN BLASTOCYSTS ; REAL-TIME ; IN-VITRO ; ANEUPLOIDY ; EMBRYOS ; PGD ; DISORDERS ; CELLS
英文摘要:

In vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), and preimplantation genetic screening (PGS) help patients to select embryos free of monogenic diseases and aneuploidy (chromosome abnormality). Next-generation sequencing (NGS) methods, while experiencing a rapid cost reduction, have improved the precision of PGD/PGS. However, the precision of PGD has been limited by the false-positive and false-negative single-nucleotide variations (SNVs), which are not acceptable in IVF and can be circumvented by linkage analyses, such as short tandem repeats or karyomapping. It is noteworthy that existing methods of detecting SNV/copy number variation (CNV) and linkage analysis often require separate procedures for the same embryo. Here we report an NGS-based PGD/PGS procedure that can simultaneously detect a single-gene disorder and aneuploidy and is capable of linkage analysis in a cost-effective way. This method, called "mutated allele revealed by sequencing with aneuploidy and linkage analyses" (MARSALA), involves multiple annealing and looping-based amplification cycles (MALBAC) for single-cell whole-genome amplification. Aneuploidy is determined by CNVs, whereas SNVs associated with the monogenic diseases are detected by PCR amplification of the MALBAC product. The false-positive and -negative SNVs are avoided by an NGS-based linkage analysis. Two healthy babies, free of the monogenic diseases of their parents, were born after such embryo selection. The monogenic diseases originated from a single base mutation on the autosome and the X-chromosome of the disease-carrying father and mother, respectively.

语种: 英语
所属项目编号: 31230047 ; 31322037 ; 31440063 ; 31522034 ; 2015AA020407 ; Z131100005213006 ; D151100002415000 ; 2011CB944500 ; 2012CB966704
项目资助者: National Natural Science of China ; National High Technology Research and Development Program ; Beijing Municipal Science and Technology Commission ; Peking University Grant for Translational Research ; National Basic Research Program of China
WOS记录号: WOS:000367234700063
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63589
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: 1.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China
2.Peking Univ, Coll Life Sci, Biodynam Opt Imaging Ctr, Beijing 100871, Peoples R China
3.Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China
4.Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China
5.Yikon Genom Inc, Taizhou 225300, Jiangsu, Peoples R China
6.Minist Educ, Key Lab Cell Proliferat & Differentiat, Beijing 100871, Peoples R China
7.Harvard Univ, Dept Chem & Chem Biol, Cambridge, MA 02138 USA
8.Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China

Recommended Citation:
Yan, Liying,Huang, Lei,Xu, Liya,et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,2015,112(52):15964-15969.
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